NIH Rare Diseases:42 Beta-thalassemia is a blood disorder that reduces the production of hemoglobin. without sufficient hemoglobin, red blood cells do not develop normally, causing a shortage of mature red blood cells, leading toÂ anemia and other health problems. severe beta-thalassemia is called â€śthalassemia majorâ€ť or â€ścooleyâ€™s anemia.â€ť thalassemia intermedia is the less severe form. mutations in the hbb gene cause beta-thalassemia. this condition is usually inherited in an autosomal recessive fashion, which means people with beta thalassemia have mutations in both of their hbb genes. people who have only one hbb mutation may have no symptoms or develop mild symptoms; these individualsÂ are said to have thalassemia minor.
last updated: 7/7/2011

Genetics Home Reference:22 Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body.

Wikipedia:64 Beta thalassemias (? thalassemias) are a group of inherited blood disorders. They are caused by reduced... more...

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Role of alpha-hemoglobin-stabilizing protein in normal erythropoiesis and beta-thalassemia. (16339656)

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Prevalence of the H63D mutation of the HFE in north India: its presence does not cause iron overload in beta thalassemia trait. (15777346)

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Heterozygous beta-thalassemia and homozygous H63D hemochromatosis in a child: an 18-year follow-up. (15805002)

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High frequency of deletional alpha-thalassemia in beta-thalassemia trait: implications for genetic counseling. (15224373)

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The degree of phenotypic correction of murine beta -thalassemia intermedia following lentiviral-mediated transfer of a human gamma-globin gene is influenced by chromosomal position effects and vector copy number. (12411297)